家族性高コレステロール血症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	c.(1586+1_1587-1)_(2140+1_2141-1)dup	LDLR	Pathogenic	19	11224439	11233849	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000217
Deletion	c.(1586+1_1587-1)_(2311+1_2312-1)del	LDLR	Pathogenic	19	11224439	11238683	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001282
Deletion	c.(1586+1_1587-1)_(2389+1_2390-1)del	LDLR	Pathogenic	19	11224439	11240188	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001283
Deletion	c.(1586+1_1587-1)_(2547+1_2548-1)del	LDLR	Pathogenic	19	11224439	11241956	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001284
Deletion	c.(1586+1_1587-1)_(*2514_?)del	LDLR	Pathogenic	19	11224439	11244506	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001168
Deletion	c.(1705+1_1706-1)_(1845+1_1846-1)del	LDLR	Pathogenic	19	11226889	11230767	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000230
Duplication	c.(1705+1_1706-1)_(1845+1_1846-1)dup	LDLR	Pathogenic	19	11226889	11230767	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000231
Deletion	c.(1705+1_1706-1)_(2389+1_2390-1)del	LDLR	Pathogenic	19	11226889	11240188	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001285
Deletion	c.(1705+1_1706-1)_(*2514_?)del	LDLR	Pathogenic	19	11226889	11244506	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001099
Deletion	FH London 1	LDLR	Pathogenic	19	11227675	11233849	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001286,OMIM:606945.0032